Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes
Objectives To develop a targeted aneuploidy and microdeletion detection platform for use in the prenatal setting, to assess the integrity of the platform with a robust validation system, and to prospectively determine the performance of the platform under routine clinical conditions. Methods To gene...
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| Veröffentlicht in: | Prenatal diagnosis 2011-03, Vol.31 (3), p.259-266 |
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| creator | Gross, Susan J. Bajaj, Komal Garry, David Klugman, Susan Karpel, Barry M. Marie Roe, Anne Wagner, Brian J. Zhan, Jenny Apfelroth, Stephen D. Schreiber-Agus, Nicole |
| description | Objectives
To develop a targeted aneuploidy and microdeletion detection platform for use in the prenatal setting, to assess the integrity of the platform with a robust validation system, and to prospectively determine the performance of the platform under routine clinical conditions.
Methods
To generate proxies for the various disorders assessed by the assay for analytical validation purposes, cells from ten microdeletion syndromes as well as from common aneuploidies were spiked into cleared amniotic fluid. Genomic DNA was isolated, labeled, and hybridized to microbeads that have been coupled to DNA derived from Bacterial Artificial Chromosome (BAC) from the relevant regions targeted by the array. Beads were read using a flow cytometric multiplex bead array detection system. In the prospective part of the study, 104 amniotic fluid samples were collected and analyzed.
Results
All microdeletion syndromes and aneuploidies were validated in a blinded fashion. In the prospective study, the total number of readable samples was 101 of 104 (97%). All sample results were confirmed independently.
Conclusion
The bead array approach is a rapid and reliable test for detecting aneuploidies and microdeletions. This assay has the potential to provide the benefit of expanded molecular cytogenetic testing to pregnant women undergoing invasive prenatal diagnosis. This approach may be especially useful in parts of the world where cytogenetic personnel and facilities may be limited. Copyright © 2011 John Wiley & Sons, Ltd. |
| doi_str_mv | 10.1002/pd.2674 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_923205904</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1028020330</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4194-a053273a940f62de95fbe1d2350354a7afa73b95d3e3bf54da91a1593ae50ecd3</originalsourceid><addsrcrecordid>eNqF0ctu1DAUBmALgejQVn0DlB2VUIqv4_ESCr1IIzqqQF1aZ-KTyuDEwU4K8_a4zLSsoCt78Z3f1vkJOWL0hFHK3w3uhM-1fEZmjBpdU87FczKjrNzFQrE98irnbwUuuNEvyR5nnGpJFzNir2HwroLeVX28w1ANCXsYIVRdDNhMAVIFOcOmamOqHI7YjL6_LQM4DSF65zH_me58k6LDgKOPfZU3vUuxw3xAXrQQMh7uzn3y9ezTl9OLenl1fnn6flk3khlZA1WCawFG0nbOHRrVrpE5LhQVSoKGFrRYG-UEinWrpAPDgCkjABXFxol98mabO6T4Y8I82s7nBkMoH41TtoYLTpWh8km5UIqXR6kp8vi_kpV90mIF_RtalpBzwtYOyXeQNgXZ-4bs4Ox9Q0W-3oVO6w7do3uopIC3W_DTB9z8K8euPu7i6q32ecRfjxrSdzvXQit78_ncyuXZxXz5YWVX4jcJ4KhL</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1028020330</pqid></control><display><type>article</type><title>Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes</title><source>MEDLINE</source><source>Access via Wiley Online Library</source><creator>Gross, Susan J. ; Bajaj, Komal ; Garry, David ; Klugman, Susan ; Karpel, Barry M. ; Marie Roe, Anne ; Wagner, Brian J. ; Zhan, Jenny ; Apfelroth, Stephen D. ; Schreiber-Agus, Nicole</creator><creatorcontrib>Gross, Susan J. ; Bajaj, Komal ; Garry, David ; Klugman, Susan ; Karpel, Barry M. ; Marie Roe, Anne ; Wagner, Brian J. ; Zhan, Jenny ; Apfelroth, Stephen D. ; Schreiber-Agus, Nicole</creatorcontrib><description>Objectives
To develop a targeted aneuploidy and microdeletion detection platform for use in the prenatal setting, to assess the integrity of the platform with a robust validation system, and to prospectively determine the performance of the platform under routine clinical conditions.
Methods
To generate proxies for the various disorders assessed by the assay for analytical validation purposes, cells from ten microdeletion syndromes as well as from common aneuploidies were spiked into cleared amniotic fluid. Genomic DNA was isolated, labeled, and hybridized to microbeads that have been coupled to DNA derived from Bacterial Artificial Chromosome (BAC) from the relevant regions targeted by the array. Beads were read using a flow cytometric multiplex bead array detection system. In the prospective part of the study, 104 amniotic fluid samples were collected and analyzed.
Results
All microdeletion syndromes and aneuploidies were validated in a blinded fashion. In the prospective study, the total number of readable samples was 101 of 104 (97%). All sample results were confirmed independently.
Conclusion
The bead array approach is a rapid and reliable test for detecting aneuploidies and microdeletions. This assay has the potential to provide the benefit of expanded molecular cytogenetic testing to pregnant women undergoing invasive prenatal diagnosis. This approach may be especially useful in parts of the world where cytogenetic personnel and facilities may be limited. Copyright © 2011 John Wiley & Sons, Ltd.</description><identifier>ISSN: 0197-3851</identifier><identifier>ISSN: 1097-0223</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/pd.2674</identifier><identifier>PMID: 21207408</identifier><language>eng</language><publisher>Chichester, UK: John Wiley & Sons, Ltd</publisher><subject>Amniotic fluid ; Aneuploidy ; Bacterial artificial chromosomes ; Comparative Genomic Hybridization - methods ; Diagnostic Tests, Routine - methods ; DNA ; Efficiency ; Female ; Flow cytometry ; Genetic Diseases, Inborn - diagnosis ; genomics ; Humans ; Male ; microspheres ; molecular cytogenetics ; Molecular Diagnostic Techniques - methods ; Molecular Diagnostic Techniques - trends ; Personnel ; Pregnancy ; Prenatal diagnosis ; Prenatal Diagnosis - methods ; Prenatal Diagnosis - trends ; Reproducibility of Results ; Sequence Deletion ; Syndrome ; Time Factors</subject><ispartof>Prenatal diagnosis, 2011-03, Vol.31 (3), p.259-266</ispartof><rights>Copyright © 2011 John Wiley & Sons, Ltd.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4194-a053273a940f62de95fbe1d2350354a7afa73b95d3e3bf54da91a1593ae50ecd3</citedby><cites>FETCH-LOGICAL-c4194-a053273a940f62de95fbe1d2350354a7afa73b95d3e3bf54da91a1593ae50ecd3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fpd.2674$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fpd.2674$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21207408$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Gross, Susan J.</creatorcontrib><creatorcontrib>Bajaj, Komal</creatorcontrib><creatorcontrib>Garry, David</creatorcontrib><creatorcontrib>Klugman, Susan</creatorcontrib><creatorcontrib>Karpel, Barry M.</creatorcontrib><creatorcontrib>Marie Roe, Anne</creatorcontrib><creatorcontrib>Wagner, Brian J.</creatorcontrib><creatorcontrib>Zhan, Jenny</creatorcontrib><creatorcontrib>Apfelroth, Stephen D.</creatorcontrib><creatorcontrib>Schreiber-Agus, Nicole</creatorcontrib><title>Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes</title><title>Prenatal diagnosis</title><addtitle>Prenat. Diagn</addtitle><description>Objectives
To develop a targeted aneuploidy and microdeletion detection platform for use in the prenatal setting, to assess the integrity of the platform with a robust validation system, and to prospectively determine the performance of the platform under routine clinical conditions.
Methods
To generate proxies for the various disorders assessed by the assay for analytical validation purposes, cells from ten microdeletion syndromes as well as from common aneuploidies were spiked into cleared amniotic fluid. Genomic DNA was isolated, labeled, and hybridized to microbeads that have been coupled to DNA derived from Bacterial Artificial Chromosome (BAC) from the relevant regions targeted by the array. Beads were read using a flow cytometric multiplex bead array detection system. In the prospective part of the study, 104 amniotic fluid samples were collected and analyzed.
Results
All microdeletion syndromes and aneuploidies were validated in a blinded fashion. In the prospective study, the total number of readable samples was 101 of 104 (97%). All sample results were confirmed independently.
Conclusion
The bead array approach is a rapid and reliable test for detecting aneuploidies and microdeletions. This assay has the potential to provide the benefit of expanded molecular cytogenetic testing to pregnant women undergoing invasive prenatal diagnosis. This approach may be especially useful in parts of the world where cytogenetic personnel and facilities may be limited. Copyright © 2011 John Wiley & Sons, Ltd.</description><subject>Amniotic fluid</subject><subject>Aneuploidy</subject><subject>Bacterial artificial chromosomes</subject><subject>Comparative Genomic Hybridization - methods</subject><subject>Diagnostic Tests, Routine - methods</subject><subject>DNA</subject><subject>Efficiency</subject><subject>Female</subject><subject>Flow cytometry</subject><subject>Genetic Diseases, Inborn - diagnosis</subject><subject>genomics</subject><subject>Humans</subject><subject>Male</subject><subject>microspheres</subject><subject>molecular cytogenetics</subject><subject>Molecular Diagnostic Techniques - methods</subject><subject>Molecular Diagnostic Techniques - trends</subject><subject>Personnel</subject><subject>Pregnancy</subject><subject>Prenatal diagnosis</subject><subject>Prenatal Diagnosis - methods</subject><subject>Prenatal Diagnosis - trends</subject><subject>Reproducibility of Results</subject><subject>Sequence Deletion</subject><subject>Syndrome</subject><subject>Time Factors</subject><issn>0197-3851</issn><issn>1097-0223</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0ctu1DAUBmALgejQVn0DlB2VUIqv4_ESCr1IIzqqQF1aZ-KTyuDEwU4K8_a4zLSsoCt78Z3f1vkJOWL0hFHK3w3uhM-1fEZmjBpdU87FczKjrNzFQrE98irnbwUuuNEvyR5nnGpJFzNir2HwroLeVX28w1ANCXsYIVRdDNhMAVIFOcOmamOqHI7YjL6_LQM4DSF65zH_me58k6LDgKOPfZU3vUuxw3xAXrQQMh7uzn3y9ezTl9OLenl1fnn6flk3khlZA1WCawFG0nbOHRrVrpE5LhQVSoKGFrRYG-UEinWrpAPDgCkjABXFxol98mabO6T4Y8I82s7nBkMoH41TtoYLTpWh8km5UIqXR6kp8vi_kpV90mIF_RtalpBzwtYOyXeQNgXZ-4bs4Ox9Q0W-3oVO6w7do3uopIC3W_DTB9z8K8euPu7i6q32ecRfjxrSdzvXQit78_ncyuXZxXz5YWVX4jcJ4KhL</recordid><startdate>201103</startdate><enddate>201103</enddate><creator>Gross, Susan J.</creator><creator>Bajaj, Komal</creator><creator>Garry, David</creator><creator>Klugman, Susan</creator><creator>Karpel, Barry M.</creator><creator>Marie Roe, Anne</creator><creator>Wagner, Brian J.</creator><creator>Zhan, Jenny</creator><creator>Apfelroth, Stephen D.</creator><creator>Schreiber-Agus, Nicole</creator><general>John Wiley & Sons, Ltd</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>7QL</scope><scope>C1K</scope></search><sort><creationdate>201103</creationdate><title>Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes</title><author>Gross, Susan J. ; Bajaj, Komal ; Garry, David ; Klugman, Susan ; Karpel, Barry M. ; Marie Roe, Anne ; Wagner, Brian J. ; Zhan, Jenny ; Apfelroth, Stephen D. ; Schreiber-Agus, Nicole</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4194-a053273a940f62de95fbe1d2350354a7afa73b95d3e3bf54da91a1593ae50ecd3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Amniotic fluid</topic><topic>Aneuploidy</topic><topic>Bacterial artificial chromosomes</topic><topic>Comparative Genomic Hybridization - methods</topic><topic>Diagnostic Tests, Routine - methods</topic><topic>DNA</topic><topic>Efficiency</topic><topic>Female</topic><topic>Flow cytometry</topic><topic>Genetic Diseases, Inborn - diagnosis</topic><topic>genomics</topic><topic>Humans</topic><topic>Male</topic><topic>microspheres</topic><topic>molecular cytogenetics</topic><topic>Molecular Diagnostic Techniques - methods</topic><topic>Molecular Diagnostic Techniques - trends</topic><topic>Personnel</topic><topic>Pregnancy</topic><topic>Prenatal diagnosis</topic><topic>Prenatal Diagnosis - methods</topic><topic>Prenatal Diagnosis - trends</topic><topic>Reproducibility of Results</topic><topic>Sequence Deletion</topic><topic>Syndrome</topic><topic>Time Factors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Gross, Susan J.</creatorcontrib><creatorcontrib>Bajaj, Komal</creatorcontrib><creatorcontrib>Garry, David</creatorcontrib><creatorcontrib>Klugman, Susan</creatorcontrib><creatorcontrib>Karpel, Barry M.</creatorcontrib><creatorcontrib>Marie Roe, Anne</creatorcontrib><creatorcontrib>Wagner, Brian J.</creatorcontrib><creatorcontrib>Zhan, Jenny</creatorcontrib><creatorcontrib>Apfelroth, Stephen D.</creatorcontrib><creatorcontrib>Schreiber-Agus, Nicole</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Environmental Sciences and Pollution Management</collection><jtitle>Prenatal diagnosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Gross, Susan J.</au><au>Bajaj, Komal</au><au>Garry, David</au><au>Klugman, Susan</au><au>Karpel, Barry M.</au><au>Marie Roe, Anne</au><au>Wagner, Brian J.</au><au>Zhan, Jenny</au><au>Apfelroth, Stephen D.</au><au>Schreiber-Agus, Nicole</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat. Diagn</addtitle><date>2011-03</date><risdate>2011</risdate><volume>31</volume><issue>3</issue><spage>259</spage><epage>266</epage><pages>259-266</pages><issn>0197-3851</issn><issn>1097-0223</issn><eissn>1097-0223</eissn><abstract>Objectives
To develop a targeted aneuploidy and microdeletion detection platform for use in the prenatal setting, to assess the integrity of the platform with a robust validation system, and to prospectively determine the performance of the platform under routine clinical conditions.
Methods
To generate proxies for the various disorders assessed by the assay for analytical validation purposes, cells from ten microdeletion syndromes as well as from common aneuploidies were spiked into cleared amniotic fluid. Genomic DNA was isolated, labeled, and hybridized to microbeads that have been coupled to DNA derived from Bacterial Artificial Chromosome (BAC) from the relevant regions targeted by the array. Beads were read using a flow cytometric multiplex bead array detection system. In the prospective part of the study, 104 amniotic fluid samples were collected and analyzed.
Results
All microdeletion syndromes and aneuploidies were validated in a blinded fashion. In the prospective study, the total number of readable samples was 101 of 104 (97%). All sample results were confirmed independently.
Conclusion
The bead array approach is a rapid and reliable test for detecting aneuploidies and microdeletions. This assay has the potential to provide the benefit of expanded molecular cytogenetic testing to pregnant women undergoing invasive prenatal diagnosis. This approach may be especially useful in parts of the world where cytogenetic personnel and facilities may be limited. Copyright © 2011 John Wiley & Sons, Ltd.</abstract><cop>Chichester, UK</cop><pub>John Wiley & Sons, Ltd</pub><pmid>21207408</pmid><doi>10.1002/pd.2674</doi><tpages>8</tpages></addata></record> |
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| ispartof | Prenatal diagnosis, 2011-03, Vol.31 (3), p.259-266 |
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| subjects | Amniotic fluid Aneuploidy Bacterial artificial chromosomes Comparative Genomic Hybridization - methods Diagnostic Tests, Routine - methods DNA Efficiency Female Flow cytometry Genetic Diseases, Inborn - diagnosis genomics Humans Male microspheres molecular cytogenetics Molecular Diagnostic Techniques - methods Molecular Diagnostic Techniques - trends Personnel Pregnancy Prenatal diagnosis Prenatal Diagnosis - methods Prenatal Diagnosis - trends Reproducibility of Results Sequence Deletion Syndrome Time Factors |
| title | Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes |
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